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Aliases for SARDH Gene

Aliases for SARDH Gene

  • Sarcosine Dehydrogenase 2 3 5
  • DMGDHL1 3 4
  • BPR-2 3 4
  • Sarcosine Dehydrogenase, Mitochondrial 3
  • Dimethylglycine Dehydrogenase-Like 1 3
  • EC 1.5.8.3 4
  • SarDH 4
  • SARD 3
  • SAR 3
  • SDH 3

External Ids for SARDH Gene

Previous HGNC Symbols for SARDH Gene

  • DMGDHL1

Previous GeneCards Identifiers for SARDH Gene

  • GC09M127604
  • GC09P128054
  • GC09M129954
  • GC09M131870
  • GC09M133558
  • GC09M135518
  • GC09M136528
  • GC09M106029

Summaries for SARDH Gene

Entrez Gene Summary for SARDH Gene

  • This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

GeneCards Summary for SARDH Gene

SARDH (Sarcosine Dehydrogenase) is a Protein Coding gene. Diseases associated with SARDH include Sarcosinemia and Dimethylglycine Dehydrogenase Deficiency. Among its related pathways are Glycine, serine and threonine metabolism and Metabolism. GO annotations related to this gene include oxidoreductase activity and sarcosine dehydrogenase activity. An important paralog of this gene is PDPR.

Gene Wiki entry for SARDH Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SARDH Gene

Genomics for SARDH Gene

Regulatory Elements for SARDH Gene

Enhancers for SARDH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F133700 1.2 Ensembl ENCODE 30.1 +37.7 37747 3.6 MLX ARID4B ZNF2 ZNF48 ZNF121 SLC30A9 GLIS2 FOS MXD4 ZNF592 SARDH ENSG00000273249 TSC1 DBH ADAMTSL2 GC09P133683
GH09F133737 0.9 ENCODE 30.7 +1.8 1771 1.7 ELF3 ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 RARA YY1 GATA4 EGR2 SARDH GC09P133683
GH09F133713 1.6 FANTOM5 Ensembl ENCODE 16.6 +24.9 24946 3.6 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B DMAP1 YBX1 ZNF2 YY1 TSC1 SARDH DBH-AS1 LINC00094 ENSG00000273249 SURF6 COL5A1-AS1 GC09P133683
GH09F133710 1.3 FANTOM5 Ensembl ENCODE 16.4 +28.2 28191 2.5 SIN3A RAD21 NR2F2 GLIS2 JUND ZNF157 IKZF1 NFE2 ZBTB33 FOS SARDH SURF4 GC09P133683
GH09F133734 0.9 Ensembl ENCODE 22.2 +4.9 4860 1.4 ZNF263 NFRKB TSC22D4 EBF1 ZIC2 ZNF318 GLIS2 ZSCAN16 GLIS1 ADNP SARDH GC09P133683
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SARDH on UCSC Golden Path with GeneCards custom track

Promoters for SARDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001914316 1755 801 ELF3 ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 RARA YY1 GATA4 EGR2

Genomic Location for SARDH Gene

Chromosome:
9
Start:
133,661,740 bp from pter
End:
133,739,955 bp from pter
Size:
78,216 bases
Orientation:
Minus strand

Genomic View for SARDH Gene

Genes around SARDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SARDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SARDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SARDH Gene

Proteins for SARDH Gene

  • Protein details for SARDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL12-SARDH_HUMAN
    Recommended name:
    Sarcosine dehydrogenase, mitochondrial
    Protein Accession:
    Q9UL12
    Secondary Accessions:
    • B2RMR5
    • B4DPI2
    • B7ZLT6
    • Q5SYV0
    • Q9Y280
    • Q9Y2Y3

    Protein attributes for SARDH Gene

    Size:
    918 amino acids
    Molecular mass:
    101037 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD33412.1; Type=Frameshift; Positions=867; Evidence={ECO:0000305};

    Alternative splice isoforms for SARDH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SARDH Gene

Post-translational modifications for SARDH Gene

  • Ubiquitination at Lys 713, Lys 757, and Lys 884
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SARDH Gene

Domains & Families for SARDH Gene

Suggested Antigen Peptide Sequences for SARDH Gene

Graphical View of Domain Structure for InterPro Entry

Q9UL12

UniProtKB/Swiss-Prot:

SARDH_HUMAN :
  • Belongs to the GcvT family.
Family:
  • Belongs to the GcvT family.
genes like me logo Genes that share domains with SARDH: view

No data available for Gene Families for SARDH Gene

Function for SARDH Gene

Molecular function for SARDH Gene

GENATLAS Biochemistry:
sarcosine dehydrogenase,catalyzing qlycine synthesis,"one-carbone" metabolism,liver motochondrial flavoenzyme
UniProtKB/Swiss-Prot CatalyticActivity:
Sarcosine + H(2)O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein.

Enzyme Numbers (IUBMB) for SARDH Gene

Gene Ontology (GO) - Molecular Function for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008480 sarcosine dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with SARDH: view
genes like me logo Genes that share phenotypes with SARDH: view

Human Phenotype Ontology for SARDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SARDH Gene

Localization for SARDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for SARDH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SARDH gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2

Gene Ontology (GO) - Cellular Components for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix NAS,TAS --
genes like me logo Genes that share ontologies with SARDH: view

Pathways & Interactions for SARDH Gene

genes like me logo Genes that share pathways with SARDH: view

UniProtKB/Swiss-Prot Q9UL12-SARDH_HUMAN

  • Pathway: Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.

Gene Ontology (GO) - Biological Process for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0042426 choline catabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with SARDH: view

No data available for SIGNOR curated interactions for SARDH Gene

Drugs & Compounds for SARDH Gene

(12) Drugs for SARDH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Formaldehyde Approved, Vet_approved Pharma 84
Water Approved Pharma 0
Glycine Approved, Vet_approved Nutra Full agonist, Agonist 226
spermine Approved Nutra Full agonist, Agonist 0

(7) Additional Compounds for SARDH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N1-acetylspermine
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
56-18-8
genes like me logo Genes that share compounds with SARDH: view

Transcripts for SARDH Gene

Unigene Clusters for SARDH Gene

Sarcosine dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SARDH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for SARDH Gene

GeneLoc Exon Structure for
SARDH
ECgene alternative splicing isoforms for
SARDH

Expression for SARDH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SARDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SARDH Gene

This gene is overexpressed in Liver (x24.0) and Pancreas (x7.3).

Protein differential expression in normal tissues from HIPED for SARDH Gene

This gene is overexpressed in Gallbladder (32.7) and Liver (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SARDH Gene



Protein tissue co-expression partners for SARDH Gene

NURSA nuclear receptor signaling pathways regulating expression of SARDH Gene:

SARDH

SOURCE GeneReport for Unigene cluster for SARDH Gene:

Hs.198003
genes like me logo Genes that share expression patterns with SARDH: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SARDH Gene

Orthologs for SARDH Gene

This gene was present in the common ancestor of animals.

Orthologs for SARDH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SARDH 34 35
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia SARDH 34 35
  • 88.33 (n)
cow
(Bos Taurus)
Mammalia SARDH 34 35
  • 86.75 (n)
mouse
(Mus musculus)
Mammalia Sardh 34 16 35
  • 85.26 (n)
rat
(Rattus norvegicus)
Mammalia Sardh 34
  • 85.26 (n)
oppossum
(Monodelphis domestica)
Mammalia SARDH 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SARDH 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SARDH 34 35
  • 77.36 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 81 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sardh 34
  • 74.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12682 34
zebrafish
(Danio rerio)
Actinopterygii sardh 34 35
  • 70.69 (n)
zgc56363 34
fruit fly
(Drosophila melanogaster)
Insecta CG6385 36 34 35
  • 56.73 (n)
CG3626 36
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007123 34
  • 56.72 (n)
worm
(Caenorhabditis elegans)
Secernentea Y106G6H.5 36
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2141 35
  • 42 (a)
OneToMany
-- 35
  • 34 (a)
OneToMany
Species where no ortholog for SARDH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SARDH Gene

ENSEMBL:
Gene Tree for SARDH (if available)
TreeFam:
Gene Tree for SARDH (if available)

Paralogs for SARDH Gene

Paralogs for SARDH Gene

(4) SIMAP similar genes for SARDH Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SARDH: view

Variants for SARDH Gene

Sequence variations from dbSNP and Humsavar for SARDH Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs149481147 Sarcosinemia (SARCOS) [MIM:268900], other 133,729,820(+) CCAGC(A/G)GGACC nc-transcript-variant, reference, missense
rs397514504 Sarcosinemia (SARCOS) [MIM:268900], other 133,733,963(-) TGGTG(G/T)TCATT nc-transcript-variant, reference, missense
rs140559739 other 133,704,962(+) GCCTC(A/G)GGGAT nc-transcript-variant, reference, stop-gained
rs149391396 other 133,671,694(+) GGCTC(A/G)GACCT nc-transcript-variant, reference, stop-gained
rs10113974 -- 133,737,157(+) CTGCC(A/C)AAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SARDH Gene

Variant ID Type Subtype PubMed ID
dgv12937n54 CNV gain 21841781
dgv12938n54 CNV loss 21841781
dgv12939n54 CNV gain+loss 21841781
dgv12940n54 CNV loss 21841781
dgv12941n54 CNV gain+loss 21841781
dgv12942n54 CNV loss 21841781
dgv12943n54 CNV gain 21841781
dgv12944n54 CNV loss 21841781
dgv12945n54 CNV loss 21841781
dgv7721n100 CNV gain 25217958
dgv95n68 CNV loss 17160897
esv21852 CNV gain 19812545
esv2659744 CNV deletion 23128226
esv2677820 CNV deletion 23128226
esv2739138 CNV deletion 23290073
esv2739171 CNV deletion 23290073
esv2739172 CNV deletion 23290073
esv2739174 CNV deletion 23290073
esv2739175 CNV deletion 23290073
esv2739176 CNV deletion 23290073
esv2739177 CNV deletion 23290073
esv2739178 CNV deletion 23290073
esv3545575 CNV deletion 23714750
esv3576711 CNV gain 25503493
esv3621942 CNV loss 21293372
esv4163 CNV loss 18987735
esv995816 CNV deletion 20482838
esv998446 CNV deletion 20482838
nsv1075685 CNV deletion 25765185
nsv1075686 CNV deletion 25765185
nsv1118065 CNV deletion 24896259
nsv1118066 CNV deletion 24896259
nsv1122246 CNV deletion 24896259
nsv1125319 OTHER inversion 24896259
nsv1128525 CNV deletion 24896259
nsv1139376 CNV deletion 24896259
nsv1146522 CNV deletion 26484159
nsv466619 CNV loss 19166990
nsv466620 CNV loss 19166990
nsv469907 CNV loss 18288195
nsv474357 CNV novel sequence insertion 20440878
nsv482984 CNV gain 15286789
nsv511411 CNV loss 21212237
nsv512123 CNV loss 21212237
nsv519503 CNV gain 19592680
nsv615640 CNV loss 21841781
nsv615641 CNV loss 21841781
nsv615645 CNV loss 21841781
nsv615646 CNV gain 21841781
nsv615647 CNV gain+loss 21841781
nsv615648 CNV gain 21841781
nsv615656 CNV loss 21841781
nsv615657 CNV loss 21841781
nsv615664 CNV loss 21841781
nsv615665 CNV loss 21841781
nsv615670 CNV loss 21841781
nsv615672 CNV gain+loss 21841781
nsv615685 CNV gain+loss 21841781
nsv615686 CNV loss 21841781
nsv615687 CNV loss 21841781
nsv615688 CNV loss 21841781
nsv615689 CNV loss 21841781
nsv615690 CNV loss 21841781
nsv8576 CNV gain 18304495
nsv951800 CNV deletion 24416366
nsv951801 CNV deletion 24416366

Variation tolerance for SARDH Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.84; 91.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SARDH Gene

Human Gene Mutation Database (HGMD)
SARDH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SARDH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SARDH Gene

Disorders for SARDH Gene

MalaCards: The human disease database

(4) MalaCards diseases for SARDH Gene - From: GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sarcosinemia
  • hypersarcosinemia
dimethylglycine dehydrogenase deficiency
  • dmgdh deficiency
neural tube defects
  • spina bifida
dilated cardiomyopathy
  • congestive cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search SARDH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SARDH_HUMAN
  • Sarcosinemia (SARCOS) [MIM:268900]: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems. {ECO:0000269 PubMed:10444331, ECO:0000269 PubMed:22825317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SARDH Gene

sarcosinemia

Relevant External Links for SARDH

Genetic Association Database (GAD)
SARDH
Human Genome Epidemiology (HuGE) Navigator
SARDH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SARDH
genes like me logo Genes that share disorders with SARDH: view

Publications for SARDH Gene

  1. Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. (PMID: 10444331) Eschenbrenner M. … Jorns M.S. (Genomics 1999) 2 3 4 22 64
  2. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. (PMID: 22825317) Bar-joseph I. … Anikster Y. (Hum. Genet. 2012) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PMID: 19161160) Franke B. … Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SARDH Gene

Sources for SARDH Gene

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